SNP Links for Protein (Select 38424083) - SNP

Select item 14866059691.

rs1486605969 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 19:5687522 (GRCh38)
19:5687533 (GRCh37)
Canonical SPDI:: NC_000019.10:5687521:C:G
Gene:: HSD11B1L (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.5687522C>G, NC_000019.9:g.5687533C>G, NG_017015.1:g.2262C>G, NM_198706.3:c.522C>G, NM_198706.2:c.522C>G, NM_198707.3:c.261C>G, NM_198707.2:c.261C>G, NM_198708.3:c.120C>G, NM_198708.2:c.120C>G, NM_198533.3:c.522C>G, NM_198533.2:c.522C>G, NM_198705.3:c.279C>G, NM_198705.2:c.279C>G, NM_198704.3:c.120C>G, NM_198704.2:c.120C>G, NM_001267868.2:c.663C>G, NM_001267868.1:c.663C>G, NM_001267869.2:c.120C>G, NM_001267869.1:c.120C>G, NM_001267870.2:c.187C>G, NM_001267870.1:c.187C>G, NM_001267871.2:c.279C>G, NM_001267871.1:c.279C>G, NP_941995.1:p.Phe174Leu, NP_941996.1:p.Phe87Leu, NP_941997.1:p.Phe40Leu, NP_940935.1:p.Phe174Leu, NP_941994.1:p.Phe93Leu, NP_941993.1:p.Phe40Leu, NP_001254797.1:p.Phe221Leu, NP_001254798.1:p.Phe40Leu, NP_001254799.1:p.Leu63Val, NP_001254800.1:p.Phe93Leu

Select item 14864556302.

rs1486455630 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:5687909 (GRCh38)
19:5687920 (GRCh37)
Canonical SPDI:: NC_000019.10:5687908:C:T
Gene:: HSD11B1L (Varview)
Functional Consequence:: synonymous_variant,missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000546/1 (Korea1K)
HGVS:: NC_000019.10:g.5687909C>T, NC_000019.9:g.5687920C>T, NG_017015.1:g.2649C>T, NM_198706.3:c.825C>T, NM_198706.2:c.825C>T, NM_198707.3:c.564C>T, NM_198707.2:c.564C>T, NM_198708.3:c.423C>T, NM_198708.2:c.423C>T, NM_198705.3:c.582C>T, NM_198705.2:c.582C>T, NM_001267868.2:c.966C>T, NM_001267868.1:c.966C>T, NM_001267869.2:c.423C>T, NM_001267869.1:c.423C>T, NM_001267870.2:c.490C>T, NM_001267870.1:c.490C>T, NP_001254799.1:p.Pro164Ser

Select item 14838290203.

rs1483829020 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 19:5687307 (GRCh38)
19:5687318 (GRCh37)
Canonical SPDI:: NC_000019.10:5687306:T:A
Gene:: HSD11B1L (Varview)
Functional Consequence:: synonymous_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.5687307T>A, NC_000019.9:g.5687318T>A, NG_017015.1:g.2047T>A, NM_198706.3:c.434T>A, NM_198706.2:c.434T>A, NM_198707.3:c.173T>A, NM_198707.2:c.173T>A, NM_198708.3:c.32T>A, NM_198708.2:c.32T>A, NM_198533.3:c.434T>A, NM_198533.2:c.434T>A, NM_198705.3:c.191T>A, NM_198705.2:c.191T>A, NM_198704.3:c.32T>A, NM_198704.2:c.32T>A, NM_001267868.2:c.575T>A, NM_001267868.1:c.575T>A, NM_001267869.2:c.32T>A, NM_001267869.1:c.32T>A, NM_001267870.2:c.99T>A, NM_001267870.1:c.99T>A, NM_001267871.2:c.191T>A, NM_001267871.1:c.191T>A, NP_941995.1:p.Leu145Gln, NP_941996.1:p.Leu58Gln, NP_941997.1:p.Leu11Gln, NP_940935.1:p.Leu145Gln, NP_941994.1:p.Leu64Gln, NP_941993.1:p.Leu11Gln, NP_001254797.1:p.Leu192Gln, NP_001254798.1:p.Leu11Gln, NP_001254800.1:p.Leu64Gln

Select item 14811021034.

rs1481102103 [Homo sapiens]

Variant type:: DELINS
Alleles:: CGC>- [Show Flanks]
Chromosome:: 19:5687887 (GRCh38)
19:5687898 (GRCh37)
Canonical SPDI:: NC_000019.10:5687885:CCGC:C
Gene:: HSD11B1L (Varview)
Functional Consequence:: inframe_deletion,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.5687887_5687889del, NC_000019.9:g.5687898_5687900del, NG_017015.1:g.2627_2629del, NM_198706.3:c.803_805del, NM_198706.2:c.803_805del, NM_198707.3:c.542_544del, NM_198707.2:c.542_544del, NM_198708.3:c.401_403del, NM_198708.2:c.401_403del, NM_198705.3:c.560_562del, NM_198705.2:c.560_562del, NM_001267868.2:c.944_946del, NM_001267868.1:c.944_946del, NM_001267869.2:c.401_403del, NM_001267869.1:c.401_403del, NM_001267870.2:c.468_470del, NM_001267870.1:c.468_470del, NP_941995.1:p.Pro268del, NP_941996.1:p.Pro181del, NP_941997.1:p.Pro134del, NP_941994.1:p.Pro187del, NP_001254797.1:p.Pro315del, NP_001254798.1:p.Pro134del, NP_001254799.1:p.Ala157del

Select item 14792958225.

rs1479295822 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:5687511 (GRCh38)
19:5687522 (GRCh37)
Canonical SPDI:: NC_000019.10:5687510:C:T
Gene:: HSD11B1L (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000021/3 (GnomAD)
T=0.000026/7 (TOPMED)
HGVS:: NC_000019.10:g.5687511C>T, NC_000019.9:g.5687522C>T, NG_017015.1:g.2251C>T, NM_198706.3:c.511C>T, NM_198706.2:c.511C>T, NM_198707.3:c.250C>T, NM_198707.2:c.250C>T, NM_198708.3:c.109C>T, NM_198708.2:c.109C>T, NM_198533.3:c.511C>T, NM_198533.2:c.511C>T, NM_198705.3:c.268C>T, NM_198705.2:c.268C>T, NM_198704.3:c.109C>T, NM_198704.2:c.109C>T, NM_001267868.2:c.652C>T, NM_001267868.1:c.652C>T, NM_001267869.2:c.109C>T, NM_001267869.1:c.109C>T, NM_001267870.2:c.176C>T, NM_001267870.1:c.176C>T, NM_001267871.2:c.268C>T, NM_001267871.1:c.268C>T, NP_941995.1:p.Pro171Ser, NP_941996.1:p.Pro84Ser, NP_941997.1:p.Pro37Ser, NP_940935.1:p.Pro171Ser, NP_941994.1:p.Pro90Ser, NP_941993.1:p.Pro37Ser, NP_001254797.1:p.Pro218Ser, NP_001254798.1:p.Pro37Ser, NP_001254799.1:p.Ala59Val, NP_001254800.1:p.Pro90Ser

Select item 14751080246.

rs1475108024 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:5687919 (GRCh38)
19:5687930 (GRCh37)
Canonical SPDI:: NC_000019.10:5687918:C:T
Gene:: HSD11B1L (Varview)
Functional Consequence:: synonymous_variant,missense_variant,coding_sequence_variant
HGVS:: NC_000019.10:g.5687919C>T, NC_000019.9:g.5687930C>T, NG_017015.1:g.2659C>T, NM_198706.3:c.835C>T, NM_198706.2:c.835C>T, NM_198707.3:c.574C>T, NM_198707.2:c.574C>T, NM_198708.3:c.433C>T, NM_198708.2:c.433C>T, NM_198533.3:c.672C>T, NM_198533.2:c.672C>T, NM_198705.3:c.592C>T, NM_198705.2:c.592C>T, NM_198704.3:c.270C>T, NM_198704.2:c.270C>T, NM_001267868.2:c.976C>T, NM_001267868.1:c.976C>T, NM_001267869.2:c.433C>T, NM_001267869.1:c.433C>T, NM_001267870.2:c.500C>T, NM_001267870.1:c.500C>T, NM_001267871.2:c.429C>T, NM_001267871.1:c.429C>T, NP_941995.1:p.Leu279Phe, NP_941996.1:p.Leu192Phe, NP_941997.1:p.Leu145Phe, NP_941994.1:p.Leu198Phe, NP_001254797.1:p.Leu326Phe, NP_001254798.1:p.Leu145Phe, NP_001254799.1:p.Ala167Val

Select item 14685929887.

rs1468592988 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:5687633 (GRCh38)
19:5687644 (GRCh37)
Canonical SPDI:: NC_000019.10:5687632:C:T
Gene:: HSD11B1L (Varview)
Functional Consequence:: synonymous_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
T=0.000023/6 (TOPMED)
HGVS:: NC_000019.10:g.5687633C>T, NC_000019.9:g.5687644C>T, NG_017015.1:g.2373C>T, NM_198706.3:c.633C>T, NM_198706.2:c.633C>T, NM_198707.3:c.372C>T, NM_198707.2:c.372C>T, NM_198708.3:c.231C>T, NM_198708.2:c.231C>T, NM_198533.3:c.633C>T, NM_198533.2:c.633C>T, NM_198705.3:c.390C>T, NM_198705.2:c.390C>T, NM_198704.3:c.231C>T, NM_198704.2:c.231C>T, NM_001267868.2:c.774C>T, NM_001267868.1:c.774C>T, NM_001267869.2:c.231C>T, NM_001267869.1:c.231C>T, NM_001267870.2:c.298C>T, NM_001267870.1:c.298C>T, NM_001267871.2:c.390C>T, NM_001267871.1:c.390C>T, NP_001254799.1:p.Pro100Ser

Select item 14675301588.

rs1467530158 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 19:5687646 (GRCh38)
19:5687657 (GRCh37)
Canonical SPDI:: NC_000019.10:5687645:G:A,NC_000019.10:5687645:G:T
Gene:: HSD11B1L (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0.0002/2 (ALFA)
HGVS:: NC_000019.10:g.5687646G>A, NC_000019.10:g.5687646G>T, NC_000019.9:g.5687657G>A, NC_000019.9:g.5687657G>T, NG_017015.1:g.2386G>A, NG_017015.1:g.2386G>T, NM_198706.3:c.646G>A, NM_198706.3:c.646G>T, NM_198706.2:c.646G>A, NM_198706.2:c.646G>T, NM_198707.3:c.385G>A, NM_198707.3:c.385G>T, NM_198707.2:c.385G>A, NM_198707.2:c.385G>T, NM_198708.3:c.244G>A, NM_198708.3:c.244G>T, NM_198708.2:c.244G>A, NM_198708.2:c.244G>T, NM_198533.3:c.646G>A, NM_198533.3:c.646G>T, NM_198533.2:c.646G>A, NM_198533.2:c.646G>T, NM_198705.3:c.403G>A, NM_198705.3:c.403G>T, NM_198705.2:c.403G>A, NM_198705.2:c.403G>T, NM_198704.3:c.244G>A, NM_198704.3:c.244G>T, NM_198704.2:c.244G>A, NM_198704.2:c.244G>T, NM_001267868.2:c.787G>A, NM_001267868.2:c.787G>T, NM_001267868.1:c.787G>A, NM_001267868.1:c.787G>T, NM_001267869.2:c.244G>A, NM_001267869.2:c.244G>T, NM_001267869.1:c.244G>A, NM_001267869.1:c.244G>T, NM_001267870.2:c.311G>A, NM_001267870.2:c.311G>T, NM_001267870.1:c.311G>A, NM_001267870.1:c.311G>T, NM_001267871.2:c.403G>A, NM_001267871.2:c.403G>T, NM_001267871.1:c.403G>A, NM_001267871.1:c.403G>T, NP_941995.1:p.Ala216Thr, NP_941995.1:p.Ala216Ser, NP_941996.1:p.Ala129Thr, NP_941996.1:p.Ala129Ser, NP_941997.1:p.Ala82Thr, NP_941997.1:p.Ala82Ser, NP_940935.1:p.Ala216Thr, NP_940935.1:p.Ala216Ser, NP_941994.1:p.Ala135Thr, NP_941994.1:p.Ala135Ser, NP_941993.1:p.Ala82Thr, NP_941993.1:p.Ala82Ser, NP_001254797.1:p.Ala263Thr, NP_001254797.1:p.Ala263Ser, NP_001254798.1:p.Ala82Thr, NP_001254798.1:p.Ala82Ser, NP_001254799.1:p.Arg104His, NP_001254799.1:p.Arg104Leu, NP_001254800.1:p.Ala135Thr, NP_001254800.1:p.Ala135Ser

Select item 14652928949.

rs1465292894 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 19:5687333 (GRCh38)
19:5687344 (GRCh37)
Canonical SPDI:: NC_000019.10:5687332:A:C
Gene:: HSD11B1L (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.5687333A>C, NC_000019.9:g.5687344A>C, NG_017015.1:g.2073A>C, NM_198706.3:c.460A>C, NM_198706.2:c.460A>C, NM_198707.3:c.199A>C, NM_198707.2:c.199A>C, NM_198708.3:c.58A>C, NM_198708.2:c.58A>C, NM_198533.3:c.460A>C, NM_198533.2:c.460A>C, NM_198705.3:c.217A>C, NM_198705.2:c.217A>C, NM_198704.3:c.58A>C, NM_198704.2:c.58A>C, NM_001267868.2:c.601A>C, NM_001267868.1:c.601A>C, NM_001267869.2:c.58A>C, NM_001267869.1:c.58A>C, NM_001267870.2:c.125A>C, NM_001267870.1:c.125A>C, NM_001267871.2:c.217A>C, NM_001267871.1:c.217A>C, NP_941995.1:p.Thr154Pro, NP_941996.1:p.Thr67Pro, NP_941997.1:p.Thr20Pro, NP_940935.1:p.Thr154Pro, NP_941994.1:p.Thr73Pro, NP_941993.1:p.Thr20Pro, NP_001254797.1:p.Thr201Pro, NP_001254798.1:p.Thr20Pro, NP_001254799.1:p.Asp42Ala, NP_001254800.1:p.Thr73Pro

Select item 146296878610.

rs1462968786 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CGCGGC [Show Flanks]
Chromosome:: 19:5687928 (GRCh38)
19:5687940 (GRCh37)
Canonical SPDI:: NC_000019.10:5687928:CGGCCGCGGC:CGGCCGCGGCCGCGGC
Gene:: HSD11B1L (Varview)
Functional Consequence:: inframe_insertion,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: CGGCCGCGGCCGCGGC=0./0 (ALFA)
HGVS:: NC_000019.10:g.5687933_5687938dup, NC_000019.9:g.5687944_5687949dup, NG_017015.1:g.2673_2678dup, NM_198706.3:c.849_854dup, NM_198706.2:c.849_854dup, NM_198707.3:c.588_593dup, NM_198707.2:c.588_593dup, NM_198708.3:c.447_452dup, NM_198708.2:c.447_452dup, NM_198533.3:c.686_691dup, NM_198533.2:c.686_691dup, NM_198705.3:c.606_611dup, NM_198705.2:c.606_611dup, NM_198704.3:c.284_289dup, NM_198704.2:c.284_289dup, NM_001267868.2:c.990_995dup, NM_001267868.1:c.990_995dup, NM_001267869.2:c.447_452dup, NM_001267869.1:c.447_452dup, NM_001267870.2:c.514_519dup, NM_001267870.1:c.514_519dup, NM_001267871.2:c.443_448dup, NM_001267871.1:c.443_448dup, NP_941995.1:p.Ala285_Ala286dup, NP_941996.1:p.Ala198_Ala199dup, NP_941997.1:p.Ala151_Ala152dup, NP_940935.1:p.Pro229_Arg230dup, NP_941994.1:p.Ala204_Ala205dup, NP_941993.1:p.Pro95_Arg96dup, NP_001254797.1:p.Ala332_Ala333dup, NP_001254798.1:p.Ala151_Ala152dup, NP_001254799.1:p.Arg172_Gly173dup, NP_001254800.1:p.Pro148_Arg149dup

Select item 146139813511.

rs1461398135 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:5687550 (GRCh38)
19:5687561 (GRCh37)
Canonical SPDI:: NC_000019.10:5687549:G:A
Gene:: HSD11B1L (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.5687550G>A, NC_000019.9:g.5687561G>A, NG_017015.1:g.2290G>A, NM_198706.3:c.550G>A, NM_198706.2:c.550G>A, NM_198707.3:c.289G>A, NM_198707.2:c.289G>A, NM_198708.3:c.148G>A, NM_198708.2:c.148G>A, NM_198533.3:c.550G>A, NM_198533.2:c.550G>A, NM_198705.3:c.307G>A, NM_198705.2:c.307G>A, NM_198704.3:c.148G>A, NM_198704.2:c.148G>A, NM_001267868.2:c.691G>A, NM_001267868.1:c.691G>A, NM_001267869.2:c.148G>A, NM_001267869.1:c.148G>A, NM_001267870.2:c.215G>A, NM_001267870.1:c.215G>A, NM_001267871.2:c.307G>A, NM_001267871.1:c.307G>A, NP_941995.1:p.Ala184Thr, NP_941996.1:p.Ala97Thr, NP_941997.1:p.Ala50Thr, NP_940935.1:p.Ala184Thr, NP_941994.1:p.Ala103Thr, NP_941993.1:p.Ala50Thr, NP_001254797.1:p.Ala231Thr, NP_001254798.1:p.Ala50Thr, NP_001254799.1:p.Cys72Tyr, NP_001254800.1:p.Ala103Thr

Select item 146139811012.

rs1461398110 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:5687873 (GRCh38)
19:5687884 (GRCh37)
Canonical SPDI:: NC_000019.10:5687872:C:T
Gene:: HSD11B1L (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant,synonymous_variant
HGVS:: NC_000019.10:g.5687873C>T, NC_000019.9:g.5687884C>T, NG_017015.1:g.2613C>T, NM_198706.3:c.789C>T, NM_198706.2:c.789C>T, NM_198707.3:c.528C>T, NM_198707.2:c.528C>T, NM_198708.3:c.387C>T, NM_198708.2:c.387C>T, NM_198705.3:c.546C>T, NM_198705.2:c.546C>T, NM_001267868.2:c.930C>T, NM_001267868.1:c.930C>T, NM_001267869.2:c.387C>T, NM_001267869.1:c.387C>T, NM_001267870.2:c.454C>T, NM_001267870.1:c.454C>T, NP_001254799.1:p.Pro152Ser

Select item 145326371713.

rs1453263717 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:5687812 (GRCh38)
19:5687823 (GRCh37)
Canonical SPDI:: NC_000019.10:5687811:G:A
Gene:: HSD11B1L (Varview)
Functional Consequence:: synonymous_variant,intron_variant,coding_sequence_variant,missense_variant
HGVS:: NC_000019.10:g.5687812G>A, NC_000019.9:g.5687823G>A, NG_017015.1:g.2552G>A, NM_198706.3:c.728G>A, NM_198706.2:c.728G>A, NM_198707.3:c.467G>A, NM_198707.2:c.467G>A, NM_198708.3:c.326G>A, NM_198708.2:c.326G>A, NM_198705.3:c.485G>A, NM_198705.2:c.485G>A, NM_001267868.2:c.869G>A, NM_001267868.1:c.869G>A, NM_001267869.2:c.326G>A, NM_001267869.1:c.326G>A, NM_001267870.2:c.393G>A, NM_001267870.1:c.393G>A, NP_941995.1:p.Gly243Asp, NP_941996.1:p.Gly156Asp, NP_941997.1:p.Gly109Asp, NP_941994.1:p.Gly162Asp, NP_001254797.1:p.Gly290Asp, NP_001254798.1:p.Gly109Asp

Select item 144706197414.

rs1447061974 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:5687902 (GRCh38)
19:5687913 (GRCh37)
Canonical SPDI:: NC_000019.10:5687901:G:A
Gene:: HSD11B1L (Varview)
Functional Consequence:: intron_variant,stop_gained,coding_sequence_variant,synonymous_variant
HGVS:: NC_000019.10:g.5687902G>A, NC_000019.9:g.5687913G>A, NG_017015.1:g.2642G>A, NM_198706.3:c.818G>A, NM_198706.2:c.818G>A, NM_198707.3:c.557G>A, NM_198707.2:c.557G>A, NM_198708.3:c.416G>A, NM_198708.2:c.416G>A, NM_198705.3:c.575G>A, NM_198705.2:c.575G>A, NM_001267868.2:c.959G>A, NM_001267868.1:c.959G>A, NM_001267869.2:c.416G>A, NM_001267869.1:c.416G>A, NM_001267870.2:c.483G>A, NM_001267870.1:c.483G>A, NP_941995.1:p.Trp273Ter, NP_941996.1:p.Trp186Ter, NP_941997.1:p.Trp139Ter, NP_941994.1:p.Trp192Ter, NP_001254797.1:p.Trp320Ter, NP_001254798.1:p.Trp139Ter

Select item 144406027715.

rs1444060277 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 19:5687523 (GRCh38)
19:5687534 (GRCh37)
Canonical SPDI:: NC_000019.10:5687522:T:A
Gene:: HSD11B1L (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.5687523T>A, NC_000019.9:g.5687534T>A, NG_017015.1:g.2263T>A, NM_198706.3:c.523T>A, NM_198706.2:c.523T>A, NM_198707.3:c.262T>A, NM_198707.2:c.262T>A, NM_198708.3:c.121T>A, NM_198708.2:c.121T>A, NM_198533.3:c.523T>A, NM_198533.2:c.523T>A, NM_198705.3:c.280T>A, NM_198705.2:c.280T>A, NM_198704.3:c.121T>A, NM_198704.2:c.121T>A, NM_001267868.2:c.664T>A, NM_001267868.1:c.664T>A, NM_001267869.2:c.121T>A, NM_001267869.1:c.121T>A, NM_001267870.2:c.188T>A, NM_001267870.1:c.188T>A, NM_001267871.2:c.280T>A, NM_001267871.1:c.280T>A, NP_941995.1:p.Ser175Thr, NP_941996.1:p.Ser88Thr, NP_941997.1:p.Ser41Thr, NP_940935.1:p.Ser175Thr, NP_941994.1:p.Ser94Thr, NP_941993.1:p.Ser41Thr, NP_001254797.1:p.Ser222Thr, NP_001254798.1:p.Ser41Thr, NP_001254799.1:p.Leu63His, NP_001254800.1:p.Ser94Thr

Select item 143901678716.

rs1439016787 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 19:5687639 (GRCh38)
19:5687650 (GRCh37)
Canonical SPDI:: NC_000019.10:5687638:A:T
Gene:: HSD11B1L (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by cluster
MAF:: T=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.5687639A>T, NC_000019.9:g.5687650A>T, NG_017015.1:g.2379A>T, NM_198706.3:c.639A>T, NM_198706.2:c.639A>T, NM_198707.3:c.378A>T, NM_198707.2:c.378A>T, NM_198708.3:c.237A>T, NM_198708.2:c.237A>T, NM_198533.3:c.639A>T, NM_198533.2:c.639A>T, NM_198705.3:c.396A>T, NM_198705.2:c.396A>T, NM_198704.3:c.237A>T, NM_198704.2:c.237A>T, NM_001267868.2:c.780A>T, NM_001267868.1:c.780A>T, NM_001267869.2:c.237A>T, NM_001267869.1:c.237A>T, NM_001267870.2:c.304A>T, NM_001267870.1:c.304A>T, NM_001267871.2:c.396A>T, NM_001267871.1:c.396A>T, NP_001254799.1:p.Arg102Ter

Select item 143815946917.

rs1438159469 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TGTG [Show Flanks]
Chromosome:: 19:5687299 (GRCh38)
19:5687311 (GRCh37)
Canonical SPDI:: NC_000019.10:5687299:GTG:GTGTGTG
Gene:: HSD11B1L (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
HGVS:: NC_000019.10:g.5687301TG[3], NC_000019.9:g.5687312TG[3], NG_017015.1:g.2041TG[3], NM_198706.3:c.429_430insTGTG, NM_198706.2:c.429_430insTGTG, NM_198707.3:c.168_169insTGTG, NM_198707.2:c.168_169insTGTG, NM_198708.3:c.27_28insTGTG, NM_198708.2:c.27_28insTGTG, NM_198533.3:c.429_430insTGTG, NM_198533.2:c.429_430insTGTG, NM_198705.3:c.186_187insTGTG, NM_198705.2:c.186_187insTGTG, NM_198704.3:c.27_28insTGTG, NM_198704.2:c.27_28insTGTG, NM_001267868.2:c.570_571insTGTG, NM_001267868.1:c.570_571insTGTG, NM_001267869.2:c.27_28insTGTG, NM_001267869.1:c.27_28insTGTG, NM_001267870.2:c.94_95insTGTG, NM_001267870.1:c.94_95insTGTG, NM_001267871.2:c.186_187insTGTG, NM_001267871.1:c.186_187insTGTG, NP_941995.1:p.Gln144fs, NP_941996.1:p.Gln57fs, NP_941997.1:p.Gln10fs, NP_940935.1:p.Gln144fs, NP_941994.1:p.Gln63fs, NP_941993.1:p.Gln10fs, NP_001254797.1:p.Gln191fs, NP_001254798.1:p.Gln10fs, NP_001254799.1:p.Ala32fs, NP_001254800.1:p.Gln63fs

Select item 143656608718.

rs1436566087 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:5687612 (GRCh38)
19:5687623 (GRCh37)
Canonical SPDI:: NC_000019.10:5687611:C:T
Gene:: HSD11B1L (Varview)
Functional Consequence:: synonymous_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.5687612C>T, NC_000019.9:g.5687623C>T, NG_017015.1:g.2352C>T, NM_198706.3:c.612C>T, NM_198706.2:c.612C>T, NM_198707.3:c.351C>T, NM_198707.2:c.351C>T, NM_198708.3:c.210C>T, NM_198708.2:c.210C>T, NM_198533.3:c.612C>T, NM_198533.2:c.612C>T, NM_198705.3:c.369C>T, NM_198705.2:c.369C>T, NM_198704.3:c.210C>T, NM_198704.2:c.210C>T, NM_001267868.2:c.753C>T, NM_001267868.1:c.753C>T, NM_001267869.2:c.210C>T, NM_001267869.1:c.210C>T, NM_001267870.2:c.277C>T, NM_001267870.1:c.277C>T, NM_001267871.2:c.369C>T, NM_001267871.1:c.369C>T, NP_001254799.1:p.His93Tyr

Select item 143361572119.

rs1433615721 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:5687772 (GRCh38)
19:5687783 (GRCh37)
Canonical SPDI:: NC_000019.10:5687771:G:A
Gene:: HSD11B1L (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
HGVS:: NC_000019.10:g.5687772G>A, NC_000019.9:g.5687783G>A, NG_017015.1:g.2512G>A, NM_198706.3:c.688G>A, NM_198706.2:c.688G>A, NM_198707.3:c.427G>A, NM_198707.2:c.427G>A, NM_198708.3:c.286G>A, NM_198708.2:c.286G>A, NM_198705.3:c.445G>A, NM_198705.2:c.445G>A, NM_001267868.2:c.829G>A, NM_001267868.1:c.829G>A, NM_001267869.2:c.286G>A, NM_001267869.1:c.286G>A, NM_001267870.2:c.353G>A, NM_001267870.1:c.353G>A, NP_941995.1:p.Ala230Thr, NP_941996.1:p.Ala143Thr, NP_941997.1:p.Ala96Thr, NP_941994.1:p.Ala149Thr, NP_001254797.1:p.Ala277Thr, NP_001254798.1:p.Ala96Thr, NP_001254799.1:p.Gly118Asp

Select item 142710164120.

rs1427101641 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:5687866 (GRCh38)
19:5687877 (GRCh37)
Canonical SPDI:: NC_000019.10:5687865:G:A
Gene:: HSD11B1L (Varview)
Functional Consequence:: synonymous_variant,intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000021/4 (GnomAD_exomes)
HGVS:: NC_000019.10:g.5687866G>A, NC_000019.9:g.5687877G>A, NG_017015.1:g.2606G>A, NM_198706.3:c.782G>A, NM_198706.2:c.782G>A, NM_198707.3:c.521G>A, NM_198707.2:c.521G>A, NM_198708.3:c.380G>A, NM_198708.2:c.380G>A, NM_198705.3:c.539G>A, NM_198705.2:c.539G>A, NM_001267868.2:c.923G>A, NM_001267868.1:c.923G>A, NM_001267869.2:c.380G>A, NM_001267869.1:c.380G>A, NM_001267870.2:c.447G>A, NM_001267870.1:c.447G>A, NP_941995.1:p.Cys261Tyr, NP_941996.1:p.Cys174Tyr, NP_941997.1:p.Cys127Tyr, NP_941994.1:p.Cys180Tyr, NP_001254797.1:p.Cys308Tyr, NP_001254798.1:p.Cys127Tyr

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Result Filters

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Items: 1 to 20 of 201

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